C9orf72

Study by Beck and colleagues. C9orf72 expansions are thought to produce so-called RNA G-quadruplexes, stable secondary structures that may interfere with normal cellular functions. The authors developed a novel method for rapid screening for these expansions and investigated both a group of patients with various neurodegenerative disorders and population controls. They find these expansions to be present in a more diverse group of patients than previously anticipated. Also, up to 0.2% of the population are carriers of these massive expansions.

Ingo Helbig

Child Neurology Fellow and epilepsy genetics researcher at the Children’s Hospital of Philadelphia (CHOP), USA and Department of Neuropediatrics, Kiel, Germany

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